Canonical Allele Identifier: CA129996090

Gene: G3BP1

Linked Data

• dbSNP Id: rs181143980
• gnomAD v2: 5-151184617-A-C
• gnomAD v3: 5-151805056-A-C
• gnomAD v4: 5-151805056-A-C
• MyVariant Identifiers: chr5:g.151184617A>C (hg19) ; chr5:g.151805056A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805056A>C , CM000667.2:g.151805056A>C	GRCh38
NC_000005.9:g.151184617A>C , CM000667.1:g.151184617A>C	GRCh37
NC_000005.8:g.151164810A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356245.8:c.*965A>C MANE Select	ENSP00000348578.3:n.*965A>C
ENST00000520177.6:c.*1152A>C	ENSP00000427810.2:n.*1152A>C
ENST00000676634.1:n.737A>C
ENST00000676644.1:c.*2343A>C	ENSP00000504249.1:n.*2343A>C
ENST00000676715.1:c.873A>C
ENST00000676734.1:c.562+610A>C	ENSP00000504327.1:n.562+610A>C
ENST00000676878.1:c.562+610A>C	ENSP00000504118.1:n.562+610A>C
ENST00000676899.1:c.761A>C
ENST00000676911.1:n.735A>C
ENST00000676978.1:c.*722A>C	ENSP00000503939.1:n.*722A>C
ENST00000677323.1:c.*965A>C	ENSP00000502880.1:n.*965A>C
ENST00000677381.1:c.*1906A>C	ENSP00000504403.1:n.*1906A>C
ENST00000677493.1:c.*1441A>C	ENSP00000504786.1:n.*1441A>C
ENST00000677687.1:c.133-435A>C	ENSP00000504281.1:n.133-435A>C
ENST00000677757.1:n.4216A>C
ENST00000677923.1:c.*1404A>C	ENSP00000504573.1:n.*1404A>C
ENST00000678295.1:c.970A>C	ENSP00000503775.1:n.970A>C
ENST00000678646.1:c.*965A>C	ENSP00000504525.1:n.*965A>C
ENST00000678657.1:c.894A>C	ENSP00000504393.1:n.894A>C
ENST00000678854.1:c.*417A>C	ENSP00000503080.1:n.*417A>C
ENST00000678904.1:n.2745A>C
ENST00000678910.1:c.*701A>C	ENSP00000503654.1:n.*701A>C
ENST00000678925.1:c.*701A>C	ENSP00000503699.1:n.*701A>C
ENST00000678964.1:c.*1432A>C	ENSP00000503385.1:n.*1432A>C
ENST00000679289.1:c.*1970A>C	ENSP00000504039.1:n.*1970A>C
ENST00000356245.7:c.*965A>C	ENSP00000348578.3:n.*965A>C
ENST00000394123.7:c.*965A>C	ENSP00000377681.3:n.*965A>C
ENST00000520177.5:c.*1906A>C	ENSP00000427810.1:n.*1906A>C
NM_005754.2:c.*965A>C	NP_005745.1:n.*965A>C
NM_198395.1:c.*965A>C	NP_938405.1:n.*965A>C
XM_006714749.2:c.*965A>C	XP_006714812.1:n.*965A>C
XM_006714750.2:c.*965A>C	XP_006714813.1:n.*965A>C
NM_005754.3:c.*965A>C MANE Select	NP_005745.1:n.*965A>C
NM_198395.2:c.*965A>C	NP_938405.1:n.*965A>C